Search results for "Heterogeneity."
showing 10 items of 388 documents
Inheritance and variable expression in Rubinstein-Taybi syndrome.
2010
Familial Rubinstein-Taybi syndrome (RTS) is very rare. Here we report on the 6th and 7th case of inherited RTS. Family 1 presents with incomplete or mild RTS over three generations; a 13-year-old girl (proband 1) with mild but typical facial features and learning disabilities, her very mildly affected mother (proband 2), and the maternal grandmother (proband 3). Family 2 includes three females with classical RTS (probands 4-6) and their father (proband 7) with broad thumbs and halluces. Proband 5 also had a brain tumor (ganglioglioma) at the age of 3 years. In probands 1-3, direct sequencing identified a novel CREBBP missense mutation, c.2728A > G (predicting p.Thr910Ala), that was absent i…
Genetic and pharmacological modulation of DNA mismatch repair heterogeneous tumors promotes immune surveillance.
2023
Patients affected by colorectal cancer (CRC) with DNA mismatch repair deficiency (MMRd), often respond to immune checkpoint blockade therapies, while those with mismatch repair-proficient (MMRp) tumors generally do not. Interestingly, a subset of MMRp CRCs contains variable fractions of MMRd cells, but it is unknown how their presence impacts immune surveillance. We asked whether modulation of the MMRd fraction in MMR heterogeneous tumors acts as an endogenous cancer vaccine by promoting immune surveillance. To test this hypothesis, we use isogenic MMRp (Mlh1+/+) and MMRd (Mlh1-/-) mouse CRC cells. MMRp/MMRd cells mixed at different ratios are injected in immunocompetent mice and tumor reje…
Effect of customer heterogeneity on the relationship satisfaction–loyalty
2014
Abstract The need to study the differences among consumers due to their behavioural heterogeneity and the highly competitive consumer markets is recognized. In this paper, we analyse the potential heterogeneous shopping assessment in retail and how that experience may influence on consequent customer loyalty in a different way. The effects of satisfaction on attitudinal and behavioural loyalty and positive word of mouth are estimated by a finite-mixture structural equation model, and unobserved heterogeneity is analysed simultaneously. The results show that there are three latent segments where the strength of causal relationships differs which mean that there is an overestimation of the im…
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
2018
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap with other neuromuscular diseases, which can be caused by pathogenic variants in non-mitochondrial genes as well. Mitochondrial pathogenic variants can be found in the mitochondrial DNA (mtDNA) or in any of the 1,500 nuclear genes with a mitochondrial function. We have performed a two-step next-generation sequencing approach in a cohort of 117 patients, mostly children, in whom a mitochondrial disease-cause could likely or possibly explain the phe…
La Valle dei Templi in epoca medioevale. Caratterizzazione antropologica e paleopatologica delle sepolture antistanti in Tempio della Concordia
2021
Riassunto ― Il lavoro presenta i risultati delle analisi bio-archeologiche effettuate su resti scheletrici umani rinvenuti in quattordici sepolture di epoca medioevale rinvenute nel Parco Archeologico della Valle dei Templi di Agrigento (Sicilia). L’obiettivo è stato l’acquisizione delle informazioni necessarie per la ricostruzione del profilo biologico di ciascun individuo, al fine di determinarne il sesso, la stima dell’età biologica alla morte, la stima della statura e la valutazione delle patologie e degli indicatori di stress occupazionale mediante le correnti metodologie e tecniche diagnostiche di tipo antropologico. Sebbene il cattivo stato di conservazione di alcuni individui non ne…
Modeling multiple taxis: Tumor invasion with phenotypic heterogeneity, haptotaxis, and unilateral interspecies repellence
2021
We provide a short review of existing models with multiple taxis performed by (at least) one species and consider a new mathematical model for tumor invasion featuring two mutually exclusive cell phenotypes (migrating and proliferating). The migrating cells perform nonlinear diffusion and two types of taxis in response to non-diffusing cues: away from proliferating cells and up the gradient of surrounding tissue. Transitions between the two cell subpopulations are influenced by subcellular (receptor binding) dynamics, thus conferring the setting a multiscale character. We prove global existence of weak solutions to a simplified model version and perform numerical simulations for the full se…
Network structure and optimal technological innovation
2019
The role of networks in the emergence, diffusion and evolution of technological innovations has attracted much theoretical and empirical attention. Yet, much of the work has explored the role of undirected and homogeneous networks. In real cases, many networks are directed. The flow of information, benefits or observations is directed from one node towards another node. Real networks are also heterogeneous, for example, few nodes have a high degree while many others have a low degree. In this article, we report on the results of an evolutionary agent-based model in which a group of agents, in our case firms, collectively search a complex (rugged) technological landscape and observe each oth…
Conflict and segregation in networks: An experiment on the interplay between individual preferences and social influence
2016
We examine the interplay between a person's individual preference and the social influence others exert. We provide a model of network relationships with conflicting preferences, where individuals are better off coordinating with those around them, but where not all have a preference for the same action. We test our model in an experiment, varying the level of conflicting preferences between individuals. Our findings suggest that preferences are more salient than social influence, under conflicting preferences: subjects relate mainly with others who have the same preferences. This leads to two undesirable outcomes: network segregation and social inefficiency. The same force that helps peopl…
Innovative therapy, monoclonal antibodies, and beyond: Highlights from the eighth annual meeting
2018
The eighth annual conference of “Innovative therapy, monoclonal antibodies, and beyond” was held in Milan on Jan. 26, 2018, and hosted by Fondazione IRCCS–Istituto Nazionale dei Tumori (Fondazione IRCCS INT). The conference was divided into two main scientific sessions, of i) pre-clinical assays and novel biotargets, and ii) clinical translation, as well as a third session of presentations from young investigators, which focused on recent achievements within Fondazione IRCCS INT on immunotherapy and targeted therapies. Presentations in the first session addressed the issue of cancer immunotherapy activity with respect to tumor heterogeneity, with key topics addressing: 1) tumor heterogeneit…
Interpreting Heterogeneous Geospatial Data Using Semantic Web Technologies
2016
International audience; The paper presents work on implementation of semantic technologies within a geospatial environment to provide a common base for further semantic interpretation. The work adds on the current works in similar areas where priorities are more on spatial data integration. We assert that having a common unified semantic view on heterogeneous datasets provides a dimension that allows us to extend beyond conventional concepts of searchability, reusability, composability and interoperability of digital geospatial data. It provides contextual understanding on geodata that will enhance effective interpretations through possible reasoning capabilities. We highlight this through …